Product Details

SNP ID

rs199943492

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:127886696 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGAAGCGGTGGTGGTTGCCCTTG[C/T]GACTGTGCTCATTCTGGATGTAGGT

Phenotype

MIM: 103000 MIM: 610135

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AK1 PubMed Links

Gene Details

Gene

AK1

Gene Name

adenylate kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000476.2	1156	Intron			NP_000467.1
NM_001318121.1	1156	Intron			NP_001305050.1
NM_001318122.1	1156	Intron			NP_001305051.1
XM_017014427.1	1156	UTR 5			XP_016869916.1
XM_017014428.1	1156	Intron			XP_016869917.1

Gene

ST6GALNAC6

Gene Name

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286999.1	1156	Missense Mutation	ACA,GCA	T301A	NP_001273928.1
NM_001287000.1	1156	Missense Mutation	CAC,CGC	H268R	NP_001273929.1
NM_001287001.1	1156	Missense Mutation	CAC,CGC	H268R	NP_001273930.1
NM_001287002.1	1156	Missense Mutation	CAC,CGC	H268R	NP_001273931.1
NM_001287003.1	1156	UTR 3			NP_001273932.1
NM_013443.4	1156	Missense Mutation	CAC,CGC	H302R	NP_038471.2
XM_011518610.2	1156	Missense Mutation	CAC,CGC	H302R	XP_011516912.1
XM_011518611.2	1156	Missense Mutation	CAC,CGC	H268R	XP_011516913.1
XM_017014658.1	1156	Missense Mutation	ACA,GCA	T326A	XP_016870147.1
XM_017014659.1	1156	Missense Mutation	ACA,GCA	T301A	XP_016870148.1
XM_017014660.1	1156	Missense Mutation	CAC,CGC	H327R	XP_016870149.1
XM_017014661.1	1156	Missense Mutation	ACA,GCA	T267A	XP_016870150.1
XM_017014662.1	1156	Missense Mutation	ACA,GCA	T267A	XP_016870151.1
XM_017014663.1	1156	Missense Mutation	ACA,GCA	T267A	XP_016870152.1
XM_017014664.1	1156	Missense Mutation	ACA,GCA	T267A	XP_016870153.1
XM_017014665.1	1156	Missense Mutation	CAC,CGC	H268R	XP_016870154.1
XM_017014666.1	1156	Missense Mutation	CAC,CGC	H268R	XP_016870155.1
XM_017014667.1	1156	Missense Mutation	CAC,CGC	H268R	XP_016870156.1

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